Data from: Common genetic variation in ETV6 is associated with colorectal cancer susceptibility

Genome-wide association studies (GWAS) have identified multiple
susceptibility loci for colorectal cancer, but much of heritability
remains unexplained. To identify additional susceptibility loci for
colorectal cancer, here we perform a GWAS in 1,023 cases and 1,306
controls and replicate the findings in seven independent samples from
China, comprising 5,317 cases and 6,887 controls. We find a variant at
12p13.2 associated with colorectal cancer risk (rs2238126 in ETV6, P =
2.67 × 10-10). We replicate this association in an additional 1,046 cases
and 1,076 controls of European ancestry (P = 0.034). The G allele of
rs2238126 confers earlier age at onset of colorectal cancer (P = 1.98 ×
10-6) and reduces the binding affinity of transcriptional enhancer MAX.
The mRNA level of ETV6 is significantly lower in colorectal tumors than in
paired normal tissues. Our findings highlight the potential importance of
genetic variation in ETV6 conferring susceptibility to colorectal cancer.